Neonatal Onset: Causes & Reasons

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Possible Causes for Neonatal Onset

Citrullinemia Type 1

CONCLUSION: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. [ncbi.nlm.nih.gov]

We report a 31-year old woman with classic, neonatal-onset citrullinemia who developed progressive hypertrophic cardiomyopathy and cataracts, neither of which has been recognized [ncbi.nlm.nih.gov]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Congenital Bile Acid Synthesis Defect Type 2

Heritability: Autosomal recessive inheritance Clinical Modifiers: Neonatal onset AKA: BASD2, congenital bile acid synthesis defect type 2, AKR1D1 congenital bile acid synthesis [monarchinitiative.org]

Clinical Features Congenital bile acid synthesis defect type 2 (CBAS2) is a progressive liver disease of neonatal onset characterized by cholestasis (Lemonde et al. 2003; [preventiongenetics.com]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

18-Hydroxylase Deficiency

onset ; Renal salt wasting ; Vomiting Associated Genes CYP11B2 (Withdrawn symbols: ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo ) Mouse Orthologs Cyp11b1 (Withdrawn symbols [mousephenotype.org]

onset 0003623 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Renal salt wasting Loss of salt in urine 0000127 Vomiting [rarediseases.info.nih.gov]

[…] symptoms Patients with Fever and Vomiting. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Failure to thrive Hepatomegaly Neonatal [mendelian.co]

Enteric Anendocrinosis

Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes. [go.gale.com]

The onset of neonatal diarrhea may rapidly lead to life threatening dehydration and malnutrition. [wjgnet.com]

Abstract Over the last decade, we have witnessed major advances in the understanding of the molecular basis of neonatal and infancy-onset diabetes. [karger.com]

3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

OMIM : 57 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Genes Tested: ABCD3, AKR1D1, AMACR, CYP7B1, HSD3B7 Description Congenital bile acid synthesis defect is an autosomal recessive condition associated with neonatal onset liver [cincinnatichildrens.org]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Acute Hepatic Porphyria

Homozygous variants with atypical presentations have been associated with complex neurological and systemic contexts due to severe PPOX deficiency, including early childhood- or neonatal-onset [scielo.br]

Mitochondrial DNA Depletion Syndrome Type 3 Hepatocerebral

The typical phenotype associated with mutations in DGUOK is neonatal onset of progressive liver disease and feeding difficulties, usually associated with hypotonia, nystagmus [ijponline.biomedcentral.com]

(neonatal or infantile), multi-organ presentation, and mortality during infancy. [5] Hepatopathic form [ edit ] DGUOK, POLG, and MPV17 related forms result in defects to [mashpedia.com]

[…] resulting protein has some residual enzyme activity. [2] RRM2B mutations have been reported in 16 infants with severe encephalomyopathic MDS that is associated with early-onset [mashpedia.com]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

neonatal/infancy Average age of death: normal Type of inheritance: mitochondrial inheritance External references: 1 OMIM reference - No MeSH references No signs/symptoms [csbg.cnb.csic.es]

[…] from neonatal life to early childhood Symptoms and signs depend on size of fatty acid involved Acyl CoA Dehydrogenases Deficiencies Medium chain fatty acid: Sudden infant [neurodiffdx.com]

Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological data: Class of prevalence: - Average age onset [csbg.cnb.csic.es]

Sepsis in Premature Infants

Neonatal sepsis is classified as early-onset and late-onset. [scielo.br]

Key Words: Chorioamnionitis; Early-onset sepsis; Group B streptococcus; Newborn Background Early-onset neonatal bacterial sepsis (EOS) has been defined as sepsis occurring [cps.ca]

Comparison of Frequency of C-Reactive Protein Positivity in Neonates with Early Onset Sepsis (EOS) and Late Onset Sepsis (LOS) CRP Sepsis Positive Negative Early onset sepsis [pedinfect.com]

Umbilical Sepsis

SETTING Evaluation of umbilical cord IL-6 and funisitis as predictors of early-onset neonatal sepsis in PPROM. [semanticscholar.org]

[…] funisitis to predict early-onset neonatal sepsis. [journals.plos.org]

[…] early onset sepsis. [karger.com]

Cryopyrin-Associated Periodic Syndrome

The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% [merckmanuals.com]

Multisystem Inflammatory Disease; Muckle-Wells Syndrome; Multisystem Inflammatory Disease, Neonatal-Onset; NOMID; Neonatal Onset Multisystem Inflammatory Disease Synonyms [icdlist.com]

Onset Multisystem Inflammatory Disease — NOMID — Multisystem Inflammatory Disease, Neonatal-Onset — Multisystem Inflammatory Disease, Neonatal Onset — Infantile Onset Multisystem [mesh.kib.ki.se]

Neonatal Infection

In all, 4.3% of the newborns had an early-onset neonatal infection and 5.3% of the women had clinical chorioamnionitis. [ncbi.nlm.nih.gov]

neonatal infection and Table 2 below to identify clinical indicators of early-onset neonatal infection. [web.archive.org]

Our results indicate that sRAGE could be a good potential biomarker of late-onset neonatal infection and sepsis (Tab. 2, Ref. 14). [ncbi.nlm.nih.gov]

Neonatal Sepsis

Sepses, Neonatal — Late-Onset Sepsis, Neonatal — Neonatal Late Onset Sepsis — Neonatal Late-Onset Sepses — Sepses, Neonatal Late-Onset — Sepsis, Neonatal Late-Onset — Neonatal [mesh.kib.ki.se]

These medications help in curing early-onset neonatal sepsis. [healthhearty.com]

Early-Onset Sepsis — Early-Onset Sepses, Neonatal — Early-Onset Sepsis, Neonatal — Neonatal Early Onset Sepsis — Neonatal Early-Onset Sepses — Sepses, Neonatal Early-Onset [mesh.kib.ki.se]

Familial Cold Autoinflammatory Syndrome Type 1

The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% [merckmanuals.com]

onset multisystemic inflammatory M04.2 (NOMID) NOMID M04.2 (neonatal onset multisystemic inflammatory disorder) Syndrome - see also Disease chronic infantile neurological [icd10data.com]

The most severe is neonatal onset multisystem inflammatory disease (NOMID), occurring in the neonatal period. The third disorder is called Muckle-Wells syndrome (MWS). [news-medical.net]

Benign Familial Infantile Epilepsy Type 4

Benign familial neonatal convulsions (BFNC) represent a distinctive epileptic syndrome of neonatal onset and a favorable prognosis(2). [indianpediatrics.net]

Genomic deletion of KCNQ2 causes neonatal onset, whereas a point mutation in KCNQ2 causes delayed-onset epilepsy. [emedicine.medscape.com]

Neonatal Onset Seizures (first two months of life): Neonatal Onset Seizures happen more frequently in the newly born than at any other stage in life. [epilepsywarriors.org]

Wolcott-Rallison Syndrome

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. [squ.pure.elsevier.com]

Abstract Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated [ncbi.nlm.nih.gov]

/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. [semanticscholar.org]

Congenital Isolated ACTH Deficiency

RESULTS: We described the largest series of 91 IAD patients and identified three distinct groups: neonatal onset complete or partial IAD or late onset IAD. [ncbi.nlm.nih.gov]

We previously demonstrated that human and micemutations of the highly cortico/melanotroph specific transcription factor gene Tpitcause a neonatal onset form of congenital [documents.tips]

Onset may occur in the neonatal period, but often is first observed in later childhood. [endocrine-abstracts.org]

Multiple Carboxylase Deficiency

Abstract Biotin-responsive multiple carboxylase deficiency can be categorized by clinical criteria into a neonatal-onset disorder and distinct syndrome of infantile onset. [ncbi.nlm.nih.gov]

(propionyl-CoA-carboxylase) ligase deficiency (disorder) Multiple carboxylase deficiency - neonatal onset (disorder) Multiple carboxylase deficiency - neonatal onset Biotin [wikidata.org]

[…] the neonatal-onset form. [ncbi.nlm.nih.gov]

Muckle-Wells Syndrome

onset multisystem inflammatory disease, also called chronic, infantile, neurological, cutaneous, and articular syndrome, are three hereditary autoinflammatory syndromes caused [doi.org]

London NW3 2PF, UK Correspondence to: Professor P Emery P.Emery{at}leeds.ac.uk Abstract Background: Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome, and neonatal [doi.org]

onset multisystem inflammatory disease Muckle-Wells syndrome anakinra sensorineural deafness auditory improvement autoinflammatory disease View Full Text Request Permissions [doi.org]

CINCA Syndrome

[…] disease chronic infantile neurological cutaneous and articular syndrome CINCA/NOMID CINCA CINCA SYNDROME CINCA SYNDROME; CINCA Multisystem Inflammatory Disease, Neonatal-Onset [wikidata.org]

Torbiak RP et al. (1989) NOMID--a neonatal syndrome of multisystem inflammation. [^] 6. Hassink SG et al. (1983) Neonatal onset multisystem inflammatory disease. [^] 7. [moldiag.com]

[…] multisystem inflammatory disease cryopyrin-associated periodic syndrome 3 IOMID syndrome chronic neurologic cutaneous and articular syndrome neonatal-onset multisystem inflammatory [wikidata.org]

Citrullinemia Type 2

In this case, neonatal-onset CTLN2 is diagnosed. [symptoma.com]

Type II, Neonatal-Onset Neonatal intrahepatic cholestasis caused by citrin deficiency NICCD Neonatal-onset citrullinemia type II Cholestasis, Neonatal Intrahepatic, caused [bioportal.bioontology.org]

Citrullinemia type 2 has two forms: neonatal onset and adult onset. The neonatal onset form has symptoms that begin in the newborn period. [my46.org]

Neonatal Meningitis

Neonatal—onset up to 4 days of age First choice: ampicillin 25 mg/kg IV every 8 hours plus cefotaxime (Claforan) 50 mg/kg IV every 12 hours Alternative: ampicillin 25 mg/kg [calsprogram.org]

Early-onset neonatal meningitis caused by an AmpC beta-lactamase-producing Escherichia coli is described for the first time; the plasmid was identified as a transferable CMY [ncbi.nlm.nih.gov]

A newborn male infant was admitted to the neonatal unit with suspected early onset neonatal sepsis for monitoring and intravenous antibiotics. [ncbi.nlm.nih.gov]

Glutaric Aciduria Type 2

Clinical description Patients with MADD fall into 3 broad clinical phenotypes: 1) neonatal onset with congenital anomalies, 2) neonatal onset without anomalies, (together [orpha.net]

Characteristic phenotypes include the neonatal-onset (lethal) form with congenital abnormalities (type I), the neonatal-onset form with hypoketotic hypoglycemia without congenital [medlink.com]

The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease. [nature.com]

Severe Neonatal-Onset Encephalopathy with Microcephaly

susceptibility to, X-linked 3 Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Reversed 1 HGVS NC_000023.10 [snpedia.com]

Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1. [moldiag.com]

Severe neonatal onset encephalopathy with microcephaly in males 3. MECP2 duplication syndrome 4. [iamg.in]

Propionic Acidemia

Clinical description Propionic acidemia can present in one of the following forms: severe neonatal onset, intermittent late onset or a chronic progressive form. [orpha.net]

Few cases have been reported mainly of the neonatal-onset form associated with high mortality. [ncbi.nlm.nih.gov]

In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication (poor feeding, vomiting, altered sensorium) and pancytopenia within [orpha.net]

Ornithine Transcarbamylase Deficiency

Some late onset patients that underwent LT, showed an activity that was as low as that observed in the neonatal onset cases. [ncbi.nlm.nih.gov]

The worst affected patients are hemizygous males, in whom a neonatal onset of hyperammonemia is manifested by poor feeding, vomiting, lethargy, tachypnea, and irritability [symptoma.com]

A retrospective analysis of 74 cases of neonatal-onset ornithine transcarbamylase (OTC) deficiency. [ncbi.nlm.nih.gov]

Carbamoyl Phosphate Synthetase Deficiency

Neonatal-onset CPSI deficiency is the most common form of the disease. [symptoma.com]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

[4] Severe hyperammonemia and severe clinical manifestations are common in neonatal-onset CPS1D. [1] Neonatal-onset patients are often born normally. [journals.lww.com]

Argininosuccinic Aciduria

The clinical presentation is variable, and there are two main forms: Neonatal onset: Within the first days of life, babies with neonatal onset argininosuccinic aciduria experience [sema4genomics.com]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, neonatal hypotonia; respiratory alkalosis; hyperammonemia; coma, and death [icd9data.com]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively. [ncbi.nlm.nih.gov]

Abstract Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is characterized by variable clinical presentation and age of onset [Neonatal onset (~12% of affected [giapjournals.com]

Most of the 28 patients with TMEM70 disorder reported to date display a distinctive phenotype characterised by neonatal onset of severe muscular hypotonia hypertrophic cardiomyopathy [jmg.bmj.com]

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. [cambridge.org]

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child 2010 ; 95 : 296 – 301. 17. [cambridge.org]